Allele Registry

Canonical Allele Identifier: PA2827005284

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042703

RCV003626600

ClinVar Variation:

49443

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Asp1587His	CA021629 NM_001318827.2:c.4759G>C